Document Detail


Genetic counseling utilization by families with offspring affected by birth defects, Hawaii, 1986-2003.
MedLine Citation:
PMID:  17431921     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Information on the genetic counseling facility utilization by families with offspring affected by birth defects in the United States is limited. The intent of this study was to report on genetic counseling utilization in Hawaii. Cases were all infants and fetuses of any pregnancy outcome with major birth defects included in a Hawaii birth defects registry and delivered during 1986-2003. The genetic counseling facility utilization rates were determined for various factors and evaluated for significance by calculating the rate ratio (RR) and 95% confidence interval (CI). Of 15,104 total cases, genetic counseling facilities were utilized in 1,596 (10.6%). Utilization rates were higher with the presence of multiple major birth defects (RR 3.06, 95% CI 2.75-3.42), chromosomal abnormalities (RR 4.25, 95% CI 3.82-4.73), and malformation syndromes (RR 6.83, 95% CI 5.85-7.93). Among 54 specific birth defects, the utilization rate varied from 1.5% for pyloric stenosis to 55.3% for holoprosencephaly and was significantly higher for 31 (57.4%) of the defects. Greater utilization rates were found with live births that had expired within 1 year after delivery (RR 2.86, 95% CI 2.42-3.36), fetal deaths (RR 1.59, 95% CI 1.23-2.03), elective terminations (RR 5.76, 95% CI 5.06-6.55), and maternal age > or =35 years (RR 1.59, 95% CI 1.41-1.78). Genetic counseling facility utilization rates were much higher with the presence of multiple major birth defects, chromosomal abnormalities, and malformation syndromes, certain specific birth defects, death of the fetus or infant, and older maternal age.
Authors:
Mathias B Forrester; Ruth D Merz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-30     Completed Date:  2007-06-29     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1045-52     Citation Subset:  IM    
Affiliation:
Hawaii Birth Defects Program, Honolulu, Hawaii, 96817-5157, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Congenital Abnormalities / epidemiology*
Family*
Female
Genetic Counseling / utilization*
Hawaii
Humans
Infant, Newborn
Live Birth / epidemiology
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis / utilization

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild fa...
Next Document:  EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype co...